We report an extended family in which two brothers with a fragile X chromosome are mentally retarded while a third brother with the fragile site is both phenotypically and mentally normal. The study of six probes detecting restriction fragment length polymorphisms on either sides of the fragile site
Mental retardation with rare fragile site expressed at 2q11
✍ Scribed by Ajlan Tükün; Yavuz Renda; Meral Topçu; Timur Tuncali; Isik Bökesoy
- Book ID
- 117545384
- Publisher
- Elsevier Science
- Year
- 2000
- Tongue
- English
- Weight
- 383 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0387-7604
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## Abstract Fragile sites are specific genomic loci that are particularly prone to chromosomal breakage. Based on their incidence in the human population, they are divided into rare fragile sites occurring in less than 5% of all individuals and common fragile sites being a constitutional feature of
Linkage a n a l y s i s i n a f f e c t e d f a m i l i e s i n d i c a t e s a h i g h frequency of recombination around t h i s s i t e i n some f a m i l i e s , a l t h o u g h i n o t h e r s t h e g e n e t i c r e l a t i o n s h i p s a r e q u i t e d i f f e r e n t and c l o s e r l i n k
Data are presented suggesting that the form of X-linked mental retardation with macro-orchidism and the form associated with a fragile site at Xq27 or 28 are the same entity.